Evidence map›Paper›PMID 40849414›Full record

SynthesisNature communications2025

Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.

Weixiong He, Peter J van der Most, Jue-Sheng Ong, Liang-Dar Hwang, Yeda Wu, Morten S Magnø, Jelle Vehof, Kristi Krebs, Laura Mauring, Katrin Õunap and 15 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. A Shared Genetic Basis Underlying Myopia-Exotropia Comorbidity.Investigative ophthalmology & visual science · 2026
    Article
  4. Article
  5. Mendelian Randomization in Eye Research: Powerful, but Prone to Misuse.Translational vision science & technology · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Weixiong HeQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. weixiong.he@uq.net.au.ORCID http://orcid.org/0000-0001-9567-2472
Peter J van der MostDepartment of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.ORCID http://orcid.org/0000-0001-8450-3518
Jue-Sheng OngQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-6062-710X
Liang-Dar HwangInstitute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia.
Yeda WuQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-5977-1526
Morten S MagnøDepartment of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.ORCID http://orcid.org/0000-0002-2276-1770
Jelle VehofDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Kristi KrebsEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0003-0494-2751
Laura MauringGenetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.ORCID http://orcid.org/0000-0002-1492-0356
Katrin ÕunapGenetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.ORCID http://orcid.org/0000-0002-4594-6364
Erik AbnerEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-6529-3161
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0003-4069-8020
Denis PlotnikovCentral Research Laboratory, Kazan State Medical University, Kazan, Russia.ORCID http://orcid.org/0000-0002-9950-8992
Chen JiangDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
Ronald B MellesDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
Puya GharahkhaniQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-4203-5952
Harold SniederDepartment of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.ORCID http://orcid.org/0000-0003-1949-2298
Teele PalumaaEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0003-4258-3294
Kuldar KaljurandEye Clinic, Tartu University Hospital, Tartu, Estonia.
Jeremy A GuggenheimSchool of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-5164-340X
David A MackeyLions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, WA, Australia.ORCID http://orcid.org/0000-0001-7914-4709
Elizabeth C EngleDepartment of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8194-7738
Hélène ChoquetDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.ORCID http://orcid.org/0000-0001-9839-8667
Lifelines Cohort Study
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0001-6731-8142

Funding

A Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8M
The Role of Refractive Error in the Etiology of GlaucomaR01EY027004 · NEI · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHOQUET, HELENE · 2017 to 2020
$1.6M
The Role of Genetic and Non-Genetic Factors and Causal Mechanisms Underlying Cataract Susceptibility For Risk PredictionR01EY033010 · NEI · KAISER FOUNDATION RESEARCH INSTITUTE · PI CHOQUET, HELENE, LACHKE, SALIL · 2022 to 2025
$1.6M
NEI NIH HHS R01 EY027004NEI NIH HHS R01 EY033010NIA NIH HHS RC2 AG036607
6 · The paper itself

Abstract

Strabismus is a common pediatric eye misalignment and has complex genetic and environmental causes. Previous genome-wide association studies (GWAS) encountered difficulties in identifying strabismus risk variants due to heterogeneity and small samples. We performed large meta-analyses of 11 European-ancestry GWAS (7 sources), analysing broad strabismus (20,464 cases, 954,921 controls) and subtypes (esotropia/exotropia). We discovered 4 loci (e.g., NPLOC4-TSPAN10-PDE6G-FAAP100, COL6A1) for strabismus and 5 additional loci (e.g., CHRNA4, MAD1L1) for strabismus subtypes and we successfully replicated the previously reported strabismus variant near NPLOC4-TSPAN10-PDE6G-FAAP100. Using mendelian randomisation, we found genetic evidence supporting maternal smoking as a causal risk factor for strabismus in offspring.

Indexed as

SmokingStrabismusFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMendelian Randomization AnalysisPolymorphism, Single NucleotidePregnancyRisk Factors

Identifiers

PMID40849414
PMCPMC12375114

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.